Strong Association between APOA5 Gene Polymorphisms and Hypertriglyceridaemic Episodes

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F19%3A00079034" target="_blank" >RIV/00023001:_____/19:00079034 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/19:10403253 RIV/00064165:_____/19:10403253

Result on the web

<a href="https://fb.cuni.cz/file/5904/fb2019a0019.pdf" target="_blank" >https://fb.cuni.cz/file/5904/fb2019a0019.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Strong Association between APOA5 Gene Polymorphisms and Hypertriglyceridaemic Episodes

Original language description

Plasma triglyceride (TG) levels represent a significant risk factor of cardiovascular and total mortality. Concentrations of TG in the plasma depend, to a large extent, on the genetic background, and the apolipoprotein A5 (APOA5) gene seems to be one of the most powerful players in the plasma TG metabolism regulation. In total, we analysed three tagging APOA5 (rs964184 rs662799, rs3135506) SNPs in 209 patients with plasma TG levels over 10 mmol/l (HTG) on at least one occasion and in 379 treatment-naïve controls (NTG) with plasma TG values within the normal range. Minor alleles of all three analysed APOA5 polymorphisms significantly (all P &lt; 0.0001) increased the risk of hypertriglyceridaemia. The most significant association (P &lt; 0.0000001) was observed for the rs964184 polymorphism, where the minor GG homozygotes had the odds ratio (OR, 95% CI) for hypertriglyceridaemia development 21.30 (8.09-56.07, P &lt; 0.000001) in comparison with the major CC allele homozygotes. Carriers of at least one minor allele at rs3135506 had OR (95% CI) 4.19 (2.75-6.40); (P &lt; 0.000005) for HTG development and similarly, carriers of a minor allele at rs662799 had OR (95% CI) 3.07 (2.00-4.72) (P &lt; 0.0001). The cumulative presence of risk alleles (unweighted gene score) significantly differed between patients with episodes of high TG and controls at P &lt; 0.0000001. There were 73 % of subjects without any of the risk alleles among the controls and 46 % in the patients. In contrast, the controls just included 3 % of subjects with score 3 and more in comparison with 18 % in HTG patients. We conclude that common APOA5 variants are very important genetic determinants of episodic hypertriglyceridaemia in the Czech population with a high potential to be applied in personalized medicine.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

<a href="/en/project/NV15-28876A" target="_blank" >NV15-28876A: Use of HTG gene score in diagnosis of primary hypertriglyceridemias and assessment of the risk of gastrointestinal and cardiovascular complications</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Folia biologica (Praha)

ISSN

0015-5500

e-ISSN

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Volume of the periodical

65

Issue of the periodical within the volume

4

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

7

Pages from-to

188-194

UT code for WoS article

000507623700004

EID of the result in the Scopus database

2-s2.0-85077479794